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Aliases for SNTA1 Gene

Aliases for SNTA1 Gene

  • Syntrophin, Alpha 1 2 3
  • Pro-TGF-Alpha Cytoplasmic Domain-Interacting Protein 1 2 3 4
  • SNT1 3 4 6
  • 59 KDa Dystrophin-Associated Protein A1 Acidic Component 1 3 4
  • Syntrophin-1 3 4
  • TACIP1 3 4
  • LQT12 3 6
  • Syntrophin, Alpha 1 (Dystrophin-Associated Protein A1, 59kDa, Acidic Component) 3
  • Syntrophin, Alpha 1 (Dystrophin-Associated Protein A1, 59kD, Acidic Component) 2
  • Dystrophin-Associated Protein A1, 59kDa, Acidic Component 3
  • Dystrophin-Associated Protein A1 2
  • Acidic Alpha 1 Syntrophin 3
  • Alpha-1-Syntrophin 3
  • Acidic Component 2
  • DJ1187J4.5 3
  • 59kDa 2

External Ids for SNTA1 Gene

Previous Symbols for SNTA1 Gene

  • SNT1

Summaries for SNTA1 Gene

Entrez Gene Summary for SNTA1 Gene

  • Syntrophins are cytoplasmic peripheral membrane scaffold proteins that are components of the dystrophin-associated protein complex. This gene is a member of the syntrophin gene family and encodes the most common syntrophin isoform found in cardiac tissues. The N-terminal PDZ domain of this syntrophin protein interacts with the C-terminus of the pore-forming alpha subunit (SCN5A) of the cardiac sodium channel Nav1.5. This protein also associates cardiac sodium channels with the nitric oxide synthase-PMCA4b (plasma membrane Ca-ATPase subtype 4b) complex in cardiomyocytes. This gene is a susceptibility locus for Long-QT syndrome (LQT) - an inherited disorder associated with sudden cardiac death from arrhythmia - and sudden infant death syndrome (SIDS). This protein also associates with dystrophin and dystrophin-related proteins at the neuromuscular junction and alters intracellular calcium ion levels in muscle tissue. [provided by RefSeq, Jan 2013]

GeneCards Summary for SNTA1 Gene

SNTA1 (Syntrophin, Alpha 1) is a Protein Coding gene. Diseases associated with SNTA1 include long qt syndrome 12 and long qt syndrome 1. Among its related pathways are SIDS Susceptibility Pathways and NGF Pathway. GO annotations related to this gene include phospholipid binding and calmodulin binding. An important paralog of this gene is SNTG1.

UniProtKB/Swiss-Prot for SNTA1 Gene

  • Adapter protein that binds to and probably organizes the subcellular localization of a variety of membrane proteins. May link various receptors to the actin cytoskeleton and the extracellular matrix via the dystrophin glycoprotein complex. Plays an important role in synapse formation and in the organization of UTRN and acetylcholine receptors at the neuromuscular synapse. Binds to phosphatidylinositol 4,5-bisphosphate (By similarity).

Gene Wiki entry for SNTA1 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SNTA1 Gene

Genomics for SNTA1 Gene

Genomic Location for SNTA1 Gene

Start:
33,407,955 bp from pter
End:
33,443,892 bp from pter
Size:
35,938 bases
Orientation:
Minus strand

Genomic View for SNTA1 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for SNTA1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SNTA1 Gene

Regulatory Elements for SNTA1 Gene

Proteins for SNTA1 Gene

  • Protein details for SNTA1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q13424-SNTA1_HUMAN
    Recommended name:
    Alpha-1-syntrophin
    Protein Accession:
    Q13424
    Secondary Accessions:
    • A8K7H9
    • B4DX40
    • E1P5N1
    • Q16438

    Protein attributes for SNTA1 Gene

    Size:
    505 amino acids
    Molecular mass:
    53895 Da
    Quaternary structure:
    • Monomer and homodimer. Interacts with the other members of the syntrophin family SNTB1 and SNTB2; SGCG and SGCA of the dystrophin glycoprotein complex; NOS1; GRB2; the sodium channel proteins SCN4A and SCN5A; F-actin and calmodulin (By similarity). Interacts with dystrophin protein DMD and related proteins DTNA and UTRN and with MAPK12, TGFA and GA. Interacts with MYOC; regulates muscle hypertrophy (By similarity).

    Alternative splice isoforms for SNTA1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for SNTA1 Gene

Proteomics data for SNTA1 Gene at MOPED

Post-translational modifications for SNTA1 Gene

  • Phosphorylated by CaM-kinase II. Phosphorylation may inhibit the interaction with DMD (By similarity).
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for SNTA1 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for SNTA1 Gene

Domains for SNTA1 Gene

Protein Domains for SNTA1 Gene

Suggested Antigen Peptide Sequences for SNTA1 Gene

Graphical View of Domain Structure for InterPro Entry

Q13424

UniProtKB/Swiss-Prot:

SNTA1_HUMAN
Domain:
  • The PH 1 domain mediates the oligomerization in a calcium dependent manner, and the association with the phosphatidylinositol 4,5-bisphosphate.:
    • Q13424
  • The PDZ domain binds to the last three or four amino acids of ion channels and receptor proteins. The association with dystrophin or related proteins probably leaves the PDZ domain available to recruit proteins to the membrane (By similarity).:
    • Q13424
  • The SU domain binds calmodulin in a calcium-dependent manner.:
    • Q13424
  • Contains 1 PDZ (DHR) domain.:
    • Q13424
  • Contains 2 PH domains.:
    • Q13424
  • Contains 1 SU (syntrophin unique) domain.:
    • Q13424
Family:
  • Belongs to the syntrophin family.:
    • Q13424
genes like me logo Genes that share domains with SNTA1: view

No data available for Gene Families for SNTA1 Gene

Function for SNTA1 Gene

Molecular function for SNTA1 Gene

UniProtKB/Swiss-Prot Function: Adapter protein that binds to and probably organizes the subcellular localization of a variety of membrane proteins. May link various receptors to the actin cytoskeleton and the extracellular matrix via the dystrophin glycoprotein complex. Plays an important role in synapse formation and in the organization of UTRN and acetylcholine receptors at the neuromuscular synapse. Binds to phosphatidylinositol 4,5-bisphosphate (By similarity).

Gene Ontology (GO) - Molecular Function for SNTA1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003779 actin binding IEA --
GO:0005515 protein binding IPI 10212242
GO:0005516 calmodulin binding IEA --
GO:0017080 contributes_to sodium channel regulator activity IMP 18591664
GO:0030165 PDZ domain binding IEA --
genes like me logo Genes that share ontologies with SNTA1: view
genes like me logo Genes that share phenotypes with SNTA1: view

Animal Models for SNTA1 Gene

MGI Knock Outs for SNTA1:

miRNA for SNTA1 Gene

miRTarBase miRNAs that target SNTA1

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targeting and HOMER Transcription for SNTA1 Gene

Localization for SNTA1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SNTA1 Gene

Cell membrane, sarcolemma; Peripheral membrane protein; Cytoplasmic side. Cell junction. Cytoplasm, cytoskeleton. Note=In skeletal muscle, it localizes at the cytoplasmic side of the sarcolemmal membrane and at neuromuscular junctions. {ECO:0000250}.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for SNTA1 Gene COMPARTMENTS Subcellular localization image for SNTA1 gene
Compartment Confidence
plasma membrane 5
cytoskeleton 2
cytosol 2
mitochondrion 2
nucleus 1

Gene Ontology (GO) - Cellular Components for SNTA1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005622 intracellular IDA 17628813
GO:0005737 cytoplasm IEA --
GO:0005856 cytoskeleton IEA --
GO:0016013 syntrophin complex TAS 21164104
GO:0016328 colocalizes_with lateral plasma membrane TAS 21164104
genes like me logo Genes that share ontologies with SNTA1: view

Pathways for SNTA1 Gene

genes like me logo Genes that share pathways with SNTA1: view

Gene Ontology (GO) - Biological Process for SNTA1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002027 regulation of heart rate IMP 18591664
GO:0003117 regulation of vasoconstriction by circulating norepinephrine IEA --
GO:0006936 muscle contraction TAS 8576247
GO:0007528 neuromuscular junction development IEA --
GO:0060307 regulation of ventricular cardiac muscle cell membrane repolarization IMP 18591664
genes like me logo Genes that share ontologies with SNTA1: view

Compounds for SNTA1 Gene

(2) HMDB Compounds for SNTA1 Gene

Compound Synonyms Cas Number PubMed IDs
Calcium
  • Ca
7440-70-2
Sodium
  • Sodium
7440-23-5

(1) Novoseek inferred chemical compound relationships for SNTA1 Gene

Compound -log(P) Hits PubMed IDs
nitric oxide 31.5 1
genes like me logo Genes that share compounds with SNTA1: view

Transcripts for SNTA1 Gene

mRNA/cDNA for SNTA1 Gene

Unigene Clusters for SNTA1 Gene

Syntrophin, alpha 1:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for SNTA1 Gene

ExUns: 1a · 1b · 1c · 1d ^ 2 ^ 3 ^ 4a · 4b · 4c ^ 5a · 5b ^ 6a · 6b ^ 7a · 7b ^ 8 ^ 9
SP1: - - -
SP2: - - -
SP3:
SP4: - -
SP5:
SP6: -

Relevant External Links for SNTA1 Gene

GeneLoc Exon Structure for
SNTA1
ECgene alternative splicing isoforms for
SNTA1

Expression for SNTA1 Gene

mRNA expression in normal human tissues for SNTA1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for SNTA1 Gene

This gene is overexpressed in Muscle - Skeletal (4.7) and Heart - Left Ventricle (4.4).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for SNTA1 Gene

SOURCE GeneReport for Unigene cluster for SNTA1 Gene Hs.31121

mRNA Expression by UniProt/SwissProt for SNTA1 Gene

Q13424-SNTA1_HUMAN
Tissue specificity: High expression in skeletal muscle and heart. Low expression in brain, pancreas, liver, kidney and lung. Not detected in placenta
genes like me logo Genes that share expressions with SNTA1: view

Orthologs for SNTA1 Gene

This gene was present in the common ancestor of animals.

Orthologs for SNTA1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia SNTA1 35
  • 99.54 (n)
  • 99.41 (a)
SNTA1 36
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia SNTA1 35
  • 89.31 (n)
  • 93.27 (a)
SNTA1 36
  • 93 (a)
OneToOne
dog
(Canis familiaris)
Mammalia SNTA1 35
  • 85.8 (n)
  • 87.8 (a)
SNTA1 36
  • 94 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Snta1 35
  • 87.64 (n)
  • 93.59 (a)
Snta1 16
Snta1 36
  • 94 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia SNTA1 36
  • 72 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia SNTA1 36
  • 76 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Snta1 35
  • 88.51 (n)
  • 93.99 (a)
chicken
(Gallus gallus)
Aves SNTA1 36
  • 70 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia SNTA1 36
  • 58 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.23870 35
tropical clawed frog
(Silurana tropicalis)
Amphibia snta1 35
  • 68.36 (n)
  • 66.53 (a)
zebrafish
(Danio rerio)
Actinopterygii SNTA1 36
  • 50 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta Syn1 36
  • 31 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea stn-1 36
  • 39 (a)
OneToMany
stn-1 37
  • 37 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 18 (a)
ManyToMany
Species with no ortholog for SNTA1:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for SNTA1 Gene

ENSEMBL:
Gene Tree for SNTA1 (if available)
TreeFam:
Gene Tree for SNTA1 (if available)

Paralogs for SNTA1 Gene

Paralogs for SNTA1 Gene

Selected SIMAP similar genes for SNTA1 Gene using alignment to 3 proteins:

genes like me logo Genes that share paralogs with SNTA1: view

Variants for SNTA1 Gene

Sequence variations from dbSNP and Humsavar for SNTA1 Gene

SNP ID Clin Chr 20 pos Sequence Context AA Info Type MAF
rs149236 -- 33,435,574(+) ggcaa(C/T)agagt intron-variant
rs158672 -- 33,435,480(-) gctgg(A/G)attac intron-variant
rs158673 -- 33,413,780(+) aaaaa(A/T)ttttt intron-variant
rs158674 -- 33,413,652(-) ccatg(C/T)ccagc intron-variant
rs172411 -- 33,413,896(+) aaggg(G/T)gccag intron-variant

Structural Variations from Database of Genomic Variants (DGV) for SNTA1 Gene

Variant ID Type Subtype PubMed ID
nsv522690 CNV Loss 19592680

Relevant External Links for SNTA1 Gene

HapMap Linkage Disequilibrium report
SNTA1
Human Gene Mutation Database (HGMD)
SNTA1
Locus Specific Mutation Databases (LSDB)
SNTA1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SNTA1 Gene

Disorders for SNTA1 Gene

(1) OMIM Diseases for SNTA1 Gene (601017)

UniProtKB/Swiss-Prot

SNTA1_HUMAN
  • Long QT syndrome 12 (LQT12) [MIM:612955]: A heart disorder characterized by a prolonged QT interval on the ECG and polymorphic ventricular arrhythmias. They cause syncope and sudden death in response to exercise or emotional stress, and can present with a sentinel event of sudden cardiac death in infancy. {ECO:0000269 PubMed:18591664, ECO:0000269 PubMed:19684871}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(2) University of Copenhagen DISEASES for SNTA1 Gene

Relevant External Links for SNTA1

Genetic Association Database (GAD)
SNTA1
Human Genome Epidemiology (HuGE) Navigator
SNTA1
genes like me logo Genes that share disorders with SNTA1: view

Publications for SNTA1 Gene

  1. The three human syntrophin genes are expressed in diverse tissues, have distinct chromosomal locations, and each bind to dystrophin and its relatives. (PMID: 8576247) Ahn A.H. … Kunkel L.M. (J. Biol. Chem. 1996) 2 3 4 23
  2. alpha-1-syntrophin mutation and the long-QT syndrome: a disease of sodium channel disruption. (PMID: 19684871) Wu G. … Vatta M. (Circ. Arrhythm. Electrophysiol. 2008) 3 4 23 48
  3. Characterization of the dystrophin-syntrophin interaction using the two-hybrid system in yeast. (PMID: 8612778) Castello A. … Gilgenkrantz H. (FEBS Lett. 1996) 2 3 4
  4. Stress-activated protein kinase-3 interacts with the PDZ domain of alpha1-syntrophin. A mechanism for specific substrate recognition. (PMID: 10212242) Hasegawa M. … Goedert M. (J. Biol. Chem. 1999) 3 4
  5. The C-terminus of human glutaminase L mediates association with PDZ domain-containing proteins. (PMID: 11163757) Olalla L. … Marquez J. (FEBS Lett. 2001) 3 4

Products for SNTA1 Gene

Sources for SNTA1 Gene

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